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Common variants of ...
Common variants of T-cells contribute differently to phenotypic variation in sarcoidosis
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- Rivera, NV (author)
- Karolinska Institutet
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- Hagemann-Jensen, M (author)
- Karolinska Institutet
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Ferreira, MAR (author)
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- Kullberg, S (author)
- Karolinska Institutet
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- Eklund, A (author)
- Karolinska Institutet
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Martin, NG (author)
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- Padyukov, L (author)
- Karolinska Institutet
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- Grunewald, J (author)
- Karolinska Institutet
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(creator_code:org_t)
- 2017-07-17
- 2017
- English.
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In: Scientific reports. - : Springer Science and Business Media LLC. - 2045-2322. ; 7:1, s. 5623-
- Related links:
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https://www.nature.c...
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http://kipublication...
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https://doi.org/10.1...
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Abstract
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- The involvement of the immune system, particularly the role of T-cells, in sarcoidosis is unclear. The existence of higher CD4+ T-cells and increased CD4/CD8 ratio may indicate a pathogenic role of T-cells in the disease. In this study, we quantified the contribution of T-cells associated variants and of CD4/CD8 ratio in sarcoidosis phenotypes, Löfgren’s syndrome (LS) and non- Löfgren’s syndrome (non-LS). We employed a polygenic-based approach using genome-wide association studies results on relative levels of T-cells in healthy individuals to measure the genetic contribution of T-cells in sarcoidosis entities. Results revealed that the genetic architecture of LS is highly influenced by genetic variants associated with CD8+ T-cells and CD4/CD8 ratio, explaining up to 7.94% and 6.49% of LS variation, respectively; whereas, the genetic architecture of non-LS is minimally influenced by T-cells, explaining a phenotypic variation of <1%. Moreover, pleiotropy assessment between T-cells and LS/non-LS associated-variants led to the discovery of highly scored pathway maps that shared common factors related to antigen presentation and T-cell regulatory mechanisms. Differences in significant polygenic scores, presence of pleiotropy, and distinct genetic factors provide further insights on how genetic variants and genes associated with relative levels of T-cell subtypes contribute differently to sarcoidosis phenotypes.
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- ref (subject category)
- art (subject category)
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